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Results: 1-7 |
Results: 7
AGAMMAGLOBULINEMIA IN A GIRL WITH A MOSAIC OF RING-18 CHROMOSOME
Authors: LITZMAN J BRYSOVA V GAILLYOVA R THON V PIJACKOVA A MICHALOVA K ZEMANOVA Z LOKAJ J
Citation: J. Litzman et al., AGAMMAGLOBULINEMIA IN A GIRL WITH A MOSAIC OF RING-18 CHROMOSOME, Journal of paediatrics and child health, 34(1), 1998, pp. 92-94
MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE GENE IN CZECH AND SLOVAK GALACTOSEMIC PATIENTS
Authors: KOZAK L FRANCOVA H PIJACKOVA A SENY JU STASTNA S SPICKOVA K BZDUCH V
Citation: L. Kozak et al., MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE GENE IN CZECH AND SLOVAK GALACTOSEMIC PATIENTS, European journal of human genetics, 6, 1998, pp. 4094-4094
UNUSUAL ENZYME FINDINGS IN 5 PATIENTS WITH METABOLIC PROFILES SUGGESTIVE OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA)
Authors: GIBSON KM SWEETMAN L KOZICH V PIJACKOVA A TSCHARRE A CORTEZ A EYSKENS F JAKOBS C DURAN M POLLTHE BT
Citation: Km. Gibson et al., UNUSUAL ENZYME FINDINGS IN 5 PATIENTS WITH METABOLIC PROFILES SUGGESTIVE OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA), Journal of inherited metabolic disease, 21(3), 1998, pp. 255-261
MUTATION AND HAPLOTYPE ANALYSIS OF PHENYLALANINE-HYDROXYLASE ALLELES IN CLASSICAL PKU PATIENTS FROM THE CZECH-REPUBLIC - IDENTIFICATION OF 4 NOVEL MUTATIONS
Authors: KOZAK L BLAZKOVA M KUHROVA V PIJACKOVA A RUZICKOVA S STASTNA S
Citation: L. Kozak et al., MUTATION AND HAPLOTYPE ANALYSIS OF PHENYLALANINE-HYDROXYLASE ALLELES IN CLASSICAL PKU PATIENTS FROM THE CZECH-REPUBLIC - IDENTIFICATION OF 4 NOVEL MUTATIONS, Journal of Medical Genetics, 34(11), 1997, pp. 893-898
INTELLECTUAL AND SCHOOL PERFORMANCE IN ADOLESCENTS WITH PHENYLKETONURIA ACCORDING TO THEIR DIETARY COMPLIANCE - THE CZECH-SLOVAK COLLABORATIVE STUDY
Authors: ZEMAN J PIJACKOVA A BEHULOVA J URGE O SALIGOVA D HYANEK J
Citation: J. Zeman et al., INTELLECTUAL AND SCHOOL PERFORMANCE IN ADOLESCENTS WITH PHENYLKETONURIA ACCORDING TO THEIR DIETARY COMPLIANCE - THE CZECH-SLOVAK COLLABORATIVE STUDY, European journal of pediatrics, 155, 1996, pp. 56-58
PHENYLKETONURIA MUTATIONS AND THEIR RELATION TO RFLP HAPLOTYPES AT THE PAH LOCUS IN CZECH PKU FAMILIES
Authors: KOZAK L KUHROVA V BLAZKOVA M ROMANO V FAJKUSOVA L DVORAKOVA D PIJACKOVA A
Citation: L. Kozak et al., PHENYLKETONURIA MUTATIONS AND THEIR RELATION TO RFLP HAPLOTYPES AT THE PAH LOCUS IN CZECH PKU FAMILIES, Human genetics, 96(4), 1995, pp. 472-476
HAPLOTYPE DISTRIBUTION AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN PKU FAMILIES FROM THE MORAVIAN AREA OF CZECHOSLOVAKIA
Authors: KOZAK L DVORAKOVA D PIJACKOVA A KAMARYT J
Citation: L. Kozak et al., HAPLOTYPE DISTRIBUTION AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN PKU FAMILIES FROM THE MORAVIAN AREA OF CZECHOSLOVAKIA, Journal of inherited metabolic disease, 16(2), 1993, pp. 451-456
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